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fibroblast growth factor receptor 2; FGFR-2; keratinocyte growth factor receptor 2; CD332 (FGFR2, BEK, KGFR, KSAM)

Function: - receptor for acidic & basic fibroblast growth factors Structure: - belongs to the protein kinase superfamily, Tyr protein kinase family, fibroblast growth factor receptor subfamily - contains 3 Ig-like C2-type domain (immunoglobulin-like) domains - contains 1 protein kinase domain Compartment: - cell membrane - isoforms 14, 19: secreted Alternative splicing: named isoforms=20 Expression: - found in adult mouse liver, lung, brain & kidney Pathology: - defects in FGFR2 are a cause of: a) Crouzon syndrome (craniofacial dysostosis type 1) b) Jackson-Weiss syndrome c) Apert syndrome d) Pfeiffer syndrome e) Beare-Stevenson cutis gyrata syndrome f) familial scaphocephaly syndrome g) lacrimo-auriculo-dento-digital syndrome h) Antley-Bixler syndrome

Related

fgfr2 gene FGFR2+FGFR3 gene mutations

General

cluster-of-differentiation antigen; cluster designation antigen; CD antigen fibroblast growth factor [FGF] receptor

Properties

SIZE: entity length = 821 aa MW = 92 kD COMPARTMENT: cellular membrane STATE: active state MOTIF: signal sequence {1-21} immunoglobulin superfamily domain {25-125} MOTIF: cysteine residue {C62} MODIFICATION: cysteine residue {C107} N-glycosylation site {N83} cysteine residue {C107} MODIFICATION: cysteine residue {C62} N-glycosylation site {N123} immunoglobulin superfamily domain {154-247} MOTIF: binding site SITE: 161-178 FOR-BINDING-OF: heparin cysteine residue {C179} MODIFICATION: cysteine residue {C231} N-glycosylation site {N228} cysteine residue {C231} MODIFICATION: cysteine residue {C179} N-glycosylation site {N241} immunoglobulin superfamily domain {256-358} MOTIF: N-glycosylation site {N265} cysteine residue {C278} MODIFICATION: cysteine residue {C342} N-glycosylation site {N297} N-glycosylation site {N318} N-glycosylation site {N331} cysteine residue {C342} MODIFICATION: cysteine residue {C278} transmembrane domain {378-398} kinase domain SITE: 481-770 MOTIF: ATP-binding site NAME: ATP-binding site SITE: 487-495 ATP-binding site NAME: ATP-binding site SITE: 517-517 aspartate residue {D626} Tyr phosphorylation site {Y657}

Database Correlations

OMIM correlations MORBIDMAP 176943 UniProt P21802 PFAM correlations Entrez Gene 2263 Kegg hsa:2263 ENZYME correlations

References

  1. UniProt :accession P21802
  2. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2
  3. Cross M, Dexter TM. Growth factors in development, transformation, and tumorigenesis. Cell. 1991 Jan 25;64(2):271-80. Review. PMID: 1988148
  4. Partanen J et al Claesson-Welsh L, Alitalo K. FGFR-4, a novel acidic fibroblast growth factor receptor with a distinct expression pattern. EMBO J. 1991 Jun;10(6):1347-54. PMID: 1709094